mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion

Abstract Ultra-rare genetic disorders can provide proof of concept for efficacy of targeted therapeutics and reveal pathogenic mechanisms relevant to more common conditions. Juvenile polyposis of infancy (JPI) is caused by microdeletions in chromosome 10 that result in haploinsufficiency of two tumo...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Human molecular genetics 2021-07, Vol.30 (14), p.1273-1282
Hauptverfasser:	Taylor, Henry, Yerlioglu, Dilay, Phen, Claudia, Ballauff, Antje, Nedelkopoulou, Natalia, Spier, Isabel, Loverdos, Inés, Busoni, Veronica B, Heise, Jürgen, Dale, Peter, de Meij, Tim, Sweet, Kevin, Cohen, Marta C, Fox, Victor L, Mas, Emmanuel, Aretz, Stefan, Eng, Charis, Buderus, Stephan, Thomson, Mike, Rojas, Isabel, Uhlig, Holm H
Format:	Artikel
Sprache:	eng
Schlagworte:	Biochemistry, Molecular Biology Bone Morphogenetic Protein Receptors, Type I Colectomy Gastrointestinal Hemorrhage Human health and pathology Humans Intestinal Polyposis - congenital Life Sciences MTOR Inhibitors Neoplastic Syndromes, Hereditary - genetics Neoplastic Syndromes, Hereditary - pathology Neoplastic Syndromes, Hereditary - surgery PTEN Phosphohydrolase - genetics Tissues and Organs TOR Serine-Threonine Kinases - genetics
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!